Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.V131Splc
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BTK

NM_000061.3:p.V131Splc

Associated Papers

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.

Rozevska M et al.

Frontiers in Immunology, 2025

Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.

Teocchi M et al.

Journal of Innate Immunity, 2024

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.

Teocchi MA et al.

Immunity, Inflammation and Disease, 2015

Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.

Kristufek D et al.

Molecular Immunology, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."